H36N (p.His36Asn) variant of CBL (E3 ubiquitin-protein ligase CBL)
H36N (p.His36Asn) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H36N (p.His36Asn) variant details
- p.His36Asn
- rs1949270091
- ClinGen CA382976193
- ClinVar RCV002627763
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.25
- MetaLR 0.15
- MetaSVM -0.90
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.739